{
  "url": "https://dantelabs.com/ro/genes/mlph",
  "gene": {
    "slug": "mlph",
    "symbol": "MLPH",
    "name": "melanophilin",
    "hgnc": "HGNC:29643",
    "summary": null,
    "location": "2q37.3",
    "locusType": "gene with protein product",
    "aliases": [
      "l1Rk3",
      "l(1)-3Rk",
      "Slac-2a",
      "ln",
      "exophilin-3",
      "SLAC2-A"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000115648",
    "entrezId": 79083,
    "omim": [
      "606526"
    ],
    "uniprot": [
      "Q9BV36"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 237487251,
      "end": 237555322,
      "strand": "+",
      "ensemblTranscript": "ENST00000264605.8",
      "refseqTranscript": "NM_024101.7",
      "ensemblProtein": "ENSP00000264605.3",
      "refseqProtein": "NP_077006.1",
      "exons": [
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          "end": 237487437
        },
        {
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        {
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        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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          "end": 237555322
        }
      ],
      "cds": {
        "start": 237493427,
        "end": 237553592
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 238394071,
      "end": 238463961,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 237021287,
      "end": 238021286,
      "genes": [
        {
          "symbol": "COPS8",
          "ensemblId": "ENSG00000198612",
          "biotype": "protein_coding",
          "start": 237085877,
          "end": 237103208,
          "strand": "+",
          "slug": "cops8"
        },
        {
          "symbol": "COL6A3",
          "ensemblId": "ENSG00000163359",
          "biotype": "protein_coding",
          "start": 237324003,
          "end": 237414409,
          "strand": "-",
          "slug": "col6a3"
        },
        {
          "symbol": "PRLH",
          "ensemblId": "ENSG00000071677",
          "biotype": "protein_coding",
          "start": 237559555,
          "end": 237567288,
          "strand": "+",
          "slug": "prlh"
        },
        {
          "symbol": "RAB17",
          "ensemblId": "ENSG00000124839",
          "biotype": "protein_coding",
          "start": 237574105,
          "end": 237601638,
          "strand": "-",
          "slug": "rab17"
        },
        {
          "symbol": "LRRFIP1",
          "ensemblId": "ENSG00000124831",
          "biotype": "protein_coding",
          "start": 237627550,
          "end": 237813682,
          "strand": "+",
          "slug": "lrrfip1"
        },
        {
          "symbol": "RBM44",
          "ensemblId": "ENSG00000177483",
          "biotype": "protein_coding",
          "start": 237798389,
          "end": 237842808,
          "strand": "+",
          "slug": "rbm44"
        },
        {
          "symbol": "RAMP1",
          "ensemblId": "ENSG00000132329",
          "biotype": "protein_coding",
          "start": 237858893,
          "end": 237923438,
          "strand": "+",
          "slug": "ramp1"
        },
        {
          "symbol": "UBE2F",
          "ensemblId": "ENSG00000184182",
          "biotype": "protein_coding",
          "start": 237966827,
          "end": 238051730,
          "strand": "+",
          "slug": "ube2f"
        },
        {
          "symbol": "UBE2F-SCLY",
          "ensemblId": "ENSG00000258984",
          "biotype": "protein_coding",
          "start": 237967014,
          "end": 238099412,
          "strand": "+",
          "slug": "ube2f-scly"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "griscelli-syndrome",
        "name": "Sindromul Griscelli",
        "diseases": [
          {
            "mondoId": "MONDO:0018306",
            "name": "Sindromul Griscelli",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "Albinism parțial cu păr argintiu; tipul 1 (MYO5A) implică probleme neurologice, tipul 2 (RAB27A) provoacă activarea imunitară excesivă cu potențial letal (HLH), iar tipul 3 (MLPH) afectează doar pigmentarea.",
            "management": "Tipul 2 necesită îngrijire specializată promptă și, de obicei, transplant de celule stem.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/griscelli-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "large-clumps-of-pigment-irregularly-distributed-along-hair-shaft",
        "name": "Large clumps of pigment irregularly distributed along hair shaft",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/large-clumps-of-pigment-irregularly-distributed-along-hair-shaft"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "hypopigmentation-of-hair",
        "name": "Loss of hair color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-hair"
      },
      {
        "slug": "partial-albinism",
        "name": "Partial absent skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/partial-albinism"
      },
      {
        "slug": "silver-gray-hair",
        "name": "Silver-gray hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/silver-gray-hair"
      },
      {
        "slug": "white-eyelashes",
        "name": "White eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/white-eyelashes"
      }
    ],
    "related": [
      {
        "slug": "myo5a",
        "symbol": "MYO5A",
        "name": "myosin VA",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/myo5a"
      },
      {
        "slug": "rab27a",
        "symbol": "RAB27A",
        "name": "RAB27A, member RAS oncogene family",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/rab27a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}